UniProt | Protein Name |
---|---|
A0A140VJM1 |
|
A4D126 |
|
GO Term | Evidence Code | PMID |
---|---|---|
isoprenoid biosynthetic process | ||
axon guidance | ||
protein O-linked mannosylation |
GO Term | Evidence Code | PMID |
---|---|---|
D-ribitol-5-phosphate cytidylyltransferase activity | ||
protein homodimerization activity | ||
cytidylyltransferase activity |
DO ID | Disease Name | Source |
---|---|---|
DOID:0060276 | pontocerebellar hypoplasia type 7 | |
DOID:0060277 | pontocerebellar hypoplasia type 8 | |
DOID:0060278 | pontocerebellar hypoplasia type 9 | |
DOID:0060282 | persistent hyperplastic primary vitreous | |
DOID:0060287 | cornea plana | |
DOID:0060469 | Miller-Dieker lissencephaly syndrome | |
DOID:0060673 | Peters anomaly | |
DOID:0060807 | syndromic X-linked intellectual disability Najm type | |
DOID:0060857 | septooptic dysplasia | |
DOID:0070247 | autosomal dominant Emery-Dreifuss muscular dystrophy 2 |
HPO ID | HPO Term |
---|---|
HP:0001181 | Adducted thumb |
HP:0001249 | Intellectual disability |
HP:0001250 | Seizure |
HP:0001252 | Hypotonia |
HP:0001263 | Global developmental delay |
HP:0001265 | Hyporeflexia |
HP:0001270 | Motor delay |
HP:0001272 | Cerebellar atrophy |
HP:0001274 | Agenesis of corpus callosum |
HP:0001276 | Hypertonia |
Disease ID | Disease Name |
---|---|
ORPHA:370980 |
|
ORPHA:352479 |
|
OMIM:616052 |
|
ORPHA:899 |
|
OMIM:614643 |
|
ORPHA:588 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
798716 | ZFIN:ZDB-GENE-061110-16 | ||
108718486 | Xenbase:XB-GENE-17334330 | ||
548994 | Xenbase:XB-GENE-1014860 | ||
101946437 | CHRPI33030 | ||
109309368 | CROPO02034 | ||
103812855 | SERCA05401 | ||
103171116 | ORNAN26481 | ||
100391839 | CALJA42914 | ||
101141405 | GORGO39179 | ||
100989529 | PANPA35859 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024